Mutagenetix > Incidental Mutation

Incidental Mutation 'R6028:Eps8l2'

480172

Institutional Source

Beutler Lab

Gene Symbol

Eps8l2

Ensembl Gene

ENSMUSG00000025504

Gene Name

EPS8-like 2

Synonyms

MMRRC Submission

044200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140918824-140942933 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140937746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 422 (F422S)

Ref Sequence

ENSEMBL: ENSMUSP00000026577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026577] [ENSMUST00000143633]

AlphaFold

Q99K30

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026577
AA Change: F422S

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026577
Gene: ENSMUSG00000025504
AA Change: F422S

Domain	Start	End	E-Value	Type
Pfam:PTB	51	181	6.6e-50	PFAM
Pfam:PID	52	175	5.9e-9	PFAM
low complexity region	196	209	N/A	INTRINSIC
low complexity region	284	299	N/A	INTRINSIC
SH3	498	553	2.11e-15	SMART
PDB:1WWU\|A	614	700	2e-46	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129373

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145108

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140025

Predicted Effect

probably benign
Transcript: ENSMUST00000143633

Meta Mutation Damage Score

0.8310

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Adck1	A	T	12: 88,368,902 (GRCm39)	M127L	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Ankrd33	T	C	15: 101,016,953 (GRCm39)	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arhgap30	A	G	1: 171,235,888 (GRCm39)	D754G	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,663,412 (GRCm39)	A347S	probably benign	Het
Efcab3	T	C	11: 104,660,481 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,131 (GRCm39)	D137E	possibly damaging	Het
Esm1	A	G	13: 113,353,201 (GRCm39)	N161S	possibly damaging	Het
Fbxw10	C	T	11: 62,764,345 (GRCm39)	Q671*	probably null	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gpr137c	C	A	14: 45,514,938 (GRCm39)	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Klhl29	G	T	12: 5,140,995 (GRCm39)	Y616*	probably null	Het
Lmnb1	T	G	18: 56,876,348 (GRCm39)	Y485*	probably null	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,831,626 (GRCm39)	N1686I	probably damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marco	T	A	1: 120,418,671 (GRCm39)	Q194L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Meltf	T	A	16: 31,706,294 (GRCm39)	D259E	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Mterf1b	T	A	5: 4,247,666 (GRCm39)		probably null	Het
Muc16	G	A	9: 18,568,472 (GRCm39)	S1349F	unknown	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Ncl	A	G	1: 86,283,855 (GRCm39)	V322A	probably benign	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Patl2	T	A	2: 121,956,618 (GRCm39)	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,786,267 (GRCm39)	H1929R	probably benign	Het
Plekhh3	A	T	11: 101,057,396 (GRCm39)	M287K	probably damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prkar2b	A	T	12: 32,043,757 (GRCm39)	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,576,491 (GRCm39)	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,875,392 (GRCm39)	C197S	probably damaging	Het
Ptprf	A	T	4: 118,070,826 (GRCm39)	V1391D	probably benign	Het
Purb	A	G	11: 6,425,150 (GRCm39)	F246S	probably damaging	Het
Rgs8	C	A	1: 153,566,734 (GRCm39)	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,160,319 (GRCm39)	N545S	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Srgap1	T	C	10: 121,664,635 (GRCm39)	Q490R	probably null	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Utrn	T	C	10: 12,530,460 (GRCm39)	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	Het

Other mutations in Eps8l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Eps8l2	APN	7	140,937,576 (GRCm39)	missense	probably benign	0.06
IGL01444:Eps8l2	APN	7	140,941,288 (GRCm39)	splice site	probably benign
IGL01467:Eps8l2	APN	7	140,941,514 (GRCm39)	missense	probably damaging	1.00
IGL01803:Eps8l2	APN	7	140,938,143 (GRCm39)	missense	probably benign
IGL02598:Eps8l2	APN	7	140,934,849 (GRCm39)	splice site	probably benign
IGL02823:Eps8l2	APN	7	140,921,988 (GRCm39)	missense	probably damaging	1.00
IGL03061:Eps8l2	APN	7	140,937,148 (GRCm39)	unclassified	probably benign
IGL03112:Eps8l2	APN	7	140,941,649 (GRCm39)	missense	probably damaging	1.00
IGL03251:Eps8l2	APN	7	140,922,875 (GRCm39)	missense	probably damaging	1.00
R0057:Eps8l2	UTSW	7	140,922,884 (GRCm39)	missense	probably benign	0.08
R0133:Eps8l2	UTSW	7	140,942,120 (GRCm39)	missense	unknown
R0361:Eps8l2	UTSW	7	140,936,112 (GRCm39)	missense	probably benign	0.05
R0409:Eps8l2	UTSW	7	140,922,893 (GRCm39)	missense	probably damaging	1.00
R0611:Eps8l2	UTSW	7	140,935,646 (GRCm39)	missense	probably damaging	1.00
R1487:Eps8l2	UTSW	7	140,941,531 (GRCm39)	missense	probably benign
R1679:Eps8l2	UTSW	7	140,940,970 (GRCm39)	missense	probably damaging	1.00
R1914:Eps8l2	UTSW	7	140,941,765 (GRCm39)	missense	probably damaging	1.00
R1915:Eps8l2	UTSW	7	140,941,765 (GRCm39)	missense	probably damaging	1.00
R1918:Eps8l2	UTSW	7	140,941,637 (GRCm39)	missense	probably damaging	0.99
R2098:Eps8l2	UTSW	7	140,935,705 (GRCm39)	splice site	probably null
R2170:Eps8l2	UTSW	7	140,921,984 (GRCm39)	missense	probably benign	0.02
R3429:Eps8l2	UTSW	7	140,937,832 (GRCm39)	critical splice donor site	probably null
R3734:Eps8l2	UTSW	7	140,937,734 (GRCm39)	missense	probably damaging	1.00
R4296:Eps8l2	UTSW	7	140,938,175 (GRCm39)	nonsense	probably null
R4701:Eps8l2	UTSW	7	140,937,173 (GRCm39)	missense	probably damaging	1.00
R4758:Eps8l2	UTSW	7	140,940,286 (GRCm39)	missense	probably damaging	0.98
R5564:Eps8l2	UTSW	7	140,936,534 (GRCm39)	missense	possibly damaging	0.94
R5567:Eps8l2	UTSW	7	140,934,920 (GRCm39)	missense	possibly damaging	0.95
R5570:Eps8l2	UTSW	7	140,934,920 (GRCm39)	missense	possibly damaging	0.95
R5735:Eps8l2	UTSW	7	140,940,290 (GRCm39)	missense	probably damaging	1.00
R5893:Eps8l2	UTSW	7	140,937,537 (GRCm39)	missense	probably damaging	1.00
R5905:Eps8l2	UTSW	7	140,937,746 (GRCm39)	missense	possibly damaging	0.89
R5927:Eps8l2	UTSW	7	140,936,259 (GRCm39)	missense	probably benign
R6248:Eps8l2	UTSW	7	140,922,015 (GRCm39)	missense	probably damaging	0.99
R6631:Eps8l2	UTSW	7	140,936,115 (GRCm39)	missense	probably damaging	1.00
R7152:Eps8l2	UTSW	7	140,935,678 (GRCm39)	missense	possibly damaging	0.95
R7231:Eps8l2	UTSW	7	140,940,305 (GRCm39)	missense	probably damaging	1.00
R8071:Eps8l2	UTSW	7	140,922,860 (GRCm39)	missense	probably damaging	1.00
R9021:Eps8l2	UTSW	7	140,936,117 (GRCm39)	missense	possibly damaging	0.94
Z1177:Eps8l2	UTSW	7	140,922,008 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGACACTGTGGGAATCACTG -3'
(R):5'- AAGGTGACCTGGCATTGTAGG -3'

Sequencing Primer
(F):5'- CTGTGGGAATCACTGGGGGAG -3'
(R):5'- GGTAGAAGACATTGTTGCTTTAGAAG -3'

Posted On

2017-06-26